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Fetal screening

Karolina Bartkute, Dalia Balsyte, Josef Wisser, Juozas Kurmanavicius
AIM: The aim of this study was to evaluate the predictive value of α-fetoprotein in maternal serum (MS-AFP) as a marker for diverse pregnancy outcomes. METHODS: The study was based on pregnancy and delivery data from 5520 women between 1999 and 2014 at University Hospital of Zurich (UHZ). INCLUSION CRITERIA: both MS-AFP and pregnancy outcome were known for the same pregnancy. Pregnancy outcomes and characteristics such as fetal malformation, intrauterine fetal death (IUFD) and intrauterine growth retardation as well as maternal age, weight before pregnancy, gestational age (GA) at delivery, newborn weight, length and head circumference were analyzed with respect to the MS-AFP value...
October 24, 2016: Journal of Perinatal Medicine
Jose Carlos P Ferreira, Francesca R Grati, Komal Bajaj, Francesca Malvestiti, Maria Beatrice Grimi, Anna Trotta, Rosaria Liuti, Silvia Milani, Lara Branca, Jacob Hartman, Federico Maggi, Giuseppe Simoni, Susan J Gross
OBJECTIVES: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result...
October 21, 2016: Prenatal Diagnosis
Stina Lou, Camilla P Nielsen, Lone Hvidman, Olav B Petersen, Mette B Risør
BACKGROUND: It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty...
October 21, 2016: BMC Pregnancy and Childbirth
Yaniv Zipori, Karen Reidy, T Gilchrist, Lex W Doyle, Mark P Umstad
BACKGROUND: Monochorionic diamniotic (MCDA) twin pregnancies are associated with adverse perinatal outcome. Intertwin discordances at the time of nuchal translucency (NT) screening may have a value in the prediction of fetal loss or twin-to-twin transfusion syndrome. We aimed to determine the ability of intertwin NT and crown rump length (CRL) discordances among MCDA twins to predict adverse outcomes. MATERIAL AND METHODS: All MCDA twins with a documented routine ultrasound at 11 to 13+6 weeks' gestation, and known pregnancy outcome between August 2003 and August 2012 were included...
October 21, 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Annah Lane, Ling Lee, Donna Traves, Andreas Lee
INTRODUCTION: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature...
October 21, 2016: Journal of Medical Imaging and Radiation Oncology
Danielle Dowdall, Christopher Flatley, Sailesh Kumar
OBJECTIVE: The objective of this study is to evaluate the association between birth weight centiles and the risk of intrapartum compromise and adverse neonatal outcomes in term pregnancies. METHODS: Retrospective study of 32 468 term singleton births at a major tertiary maternity hospital in Australia. Data comprised gestation, mode, and indication for delivery and adverse perinatal outcomes. Fetal sex and gestational age-specific birth weight centiles were the main exposure variable...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Arsenio Spinillo, Fausta Beneventi, Elena Locatelli, Vèronique Ramoni, Roberto Caporali, Claudia Alpini, Giulia Albonico, Chiara Cavagnoli, Carlomaurizio Montecucco
BACKGROUND: The burden of pregnancy complications associated with well defined, already established systemic rheumatic diseases preexisting pregnancy such as rheumatoid arthritis, systemic lupus erythematosus or scleroderma is well known. Systemic rheumatic diseases are characterized by a long natural history with few symptoms, an undifferentiated picture or a remitting course making difficult a timely diagnosis. It has been suggested that screening measures for these diseases could be useful but the impact of unrecognized systemic rheumatic disorders on pregnancy outcome is unknown...
October 18, 2016: BMC Pregnancy and Childbirth
Alexander Wolf, Katharina Beller, Sebastian Groemminger, Wera Hofmann, Matthias Sachse, Jana Fassunke
Increasing sample numbers for screening and diagnostics using circulating cell-free DNA (ccfDNA) as analyte demands an automated solution for ccfDNA extraction. The efficiency of a new, automated, large volume ccfDNA extraction method was evaluated against a manual reference method. The new kit for automated ccfDNA extraction on the QIAsymphony showed a comparable yield of total ccfDNA from healthy donors as well as a comparable recovery of circulating cancer and fetal DNA. In conclusion, a new kit for automated ccfDNA extraction was established successfully...
2016: Advances in Experimental Medicine and Biology
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Dick Oepkes, Lieve C Page-Christiaens, Caroline J Bax, Mireille N Bekker, Catia M Bilardo, Elles M J Boon, G Heleen Schuring-Blom, Audrey B C Coumans, Brigitte H Faas, Robert-Jan H Galjaard, Attie T Go, Lidewij Henneman, Merryn V E Macville, Eva Pajkrt, Ron F Suijkerbuijk, Karin Huijsdens-vanAmsterdam, Diane Van Opstal, E J Joanne Verweij, Marjan M Weiss, Erik A Sistermans
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome...
October 17, 2016: Prenatal Diagnosis
(no author information available yet)
No abstract text is available yet for this article.
November 2016: American Journal of Medical Genetics. Part A
Moshe Bronshtein, Zeev Blumenfeld, Asaad Choury, Ayala Gover
OBJECTIVES: To assess the natural history and outcome of fetal pulmonary stenosis [PS] detected at 14 to 16 weeks gestation. METHODS: This is a retrospective study, in the years 2004-2015, with serial follow up during pregnancy. Patients referred for complete early fetal ultrasound including all fetal systems and a fetal echocardiogram. Ninety seven percent of the women were low risk, and 3% had risk factors such as maternal type 1 diabetes mellitus, exposure to teratogenic drugs or anomalies in previous pregnancies or in other family members...
October 14, 2016: Ultrasound in Obstetrics & Gynecology
Katharine OʼConnell White, Deborah L Nucatola, Carolyn Westhoff
OBJECTIVE: To compare the effectiveness of 1.0 mg intra-fetal or intra-amniotic digoxin to achieve fetal asystole before second-trimester surgical pregnancy termination. METHODS: In a randomized trial, women received 1.0 mg transabdominal intra-fetal or intra-amniotic digoxin on the day of laminaria placement before dilation and evacuation between 20 and 24 weeks of gestation. The primary outcome was incidence of fetal asystole, documented immediately before dilation and evacuation...
October 6, 2016: Obstetrics and Gynecology
Rachel V van Schendel, Lieve Page-Christiaens, Lean Beulen, Catia M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice...
October 14, 2016: Prenatal Diagnosis
Li-Hong Wu, Hong-Ning Xie, Dario Paladini, Ju Zheng, Liu Du, Mei-Fang Lin
OBJECTIVES: To establish fetal azygos vein and descending aorta sonographic Z score formulas based on femur length and gestational age and to determine the value of azygos vein diameter variation for potential use in the diagnosis of fetal venous malformations related to the azygos vein. METHODS: A total of 452 healthy singleton fetuses and 25 fetuses with venous malformations related to the azygos vein underwent prenatal sonography in this retrospective study. Azygos vein and descending aorta diameters were measured offline after spatiotemporal image correlation volume acquisition...
October 13, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Jens Henrichs, Viki Verfaille, Laura Viester, Myrte Westerneng, Bert Molewijk, Arie Franx, Henriette van der Horst, Judith E Bosmans, Ank de Jonge, Petra Jellema
BACKGROUND: Intrauterine growth retardation (IUGR) is a major risk factor for perinatal mortality and morbidity. Thus, there is a compelling need to introduce sensitive measures to detect IUGR fetuses. Routine third trimester ultrasonography is increasingly used to detect IUGR. However, we lack evidence for its clinical effectiveness and cost-effectiveness and information on ethical considerations of additional third trimester ultrasonography. This nationwide stepped wedge cluster-randomized trial examines the (cost-)effectiveness of routine third trimester ultrasonography in reducing severe adverse perinatal outcome through subsequent protocolized management...
October 13, 2016: BMC Pregnancy and Childbirth
Cristina Faralla, Gabrielle A Rizzuto, David E Lowe, Byoungkwan Kim, Cara Cooke, Lawrence R Shiow, Anna I Bakardjiev
Intrauterine infection is a major detriment for maternal-child health and occurs despite local mechanisms that protect the maternal-fetal interface from a wide variety of pathogens. The bacterial pathogen Listeria monocytogenes causes spontaneous abortion, stillbirth, and preterm labor in humans, and serves as a model for placental pathogenesis. Given the unique immunological environment of the maternal-fetal interface we hypothesized that virulence determinants with placental tropism are required for infection of this tissue...
October 10, 2016: Infection and Immunity
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
Ran Svirsky, Ron Maymon, Yaakov Melcer, Esther Klog, Howard Cuckle
OBJECTIVE: To investigate maternal serum inhibin as a marker of pre-eclampsia in twins. METHODS: 143 twins and 109 unaffected singleton pregnancies were recruited in the first trimester from the same institution. Blood samples were stored at recruitment and in the second trimester, retrospectively tested for inhibin and values expressed in multiples of the gestation-specific median (MoMs) in singletons, adjusted for maternal weight, as appropriate. RESULTS: The median inhibin level in unaffected twins was 2...
October 12, 2016: Prenatal Diagnosis
Jiabing Shen, Xiaomei Chen, Hongmei Li, Yang Wang, Keke Huo, Kaifu Ke
Recently, NIX, a pro-apoptotic BH3-only protein, was found to be a novel p75 neurotrophin receptor (p75(NTR)) binding protein by screening a human fetal brain two-hybrid library in our laboratory. We further study the interaction of these two proteins and the possible roles of p75(NTR) and NIX in intracerebral hemorrhage (ICH)-induced neuronal death. Using the split-ubiquitin yeast two-hybrid system, we found that the "Copper" domain in p75(NTR) and the TM region in NIX were sufficient for the interaction of these two proteins...
October 10, 2016: Cell and Tissue Research
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